Till sidans topp

Sidansvarig: Webbredaktion
Sidan uppdaterades: 2012-09-11 15:12

Tipsa en vän
Utskriftsversion

Mutations in the histone … - Göteborgs universitet Till startsida
Webbkarta
Till innehåll Läs mer om hur kakor används på gu.se

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Artikel i vetenskaplig tidskrift
Författare Esther Meyer
Keren J Carss
Julia Rankin
John M E Nichols
Detelina Grozeva
Agnel P Joseph
Niccolo E Mencacci
Apostolos Papandreou
Joanne Ng
Serena Barral
Adeline Ngoh
Hilla Ben-Pazi
Michel A Willemsen
David Arkadir
Angela Barnicoat
Hagai Bergman
Sanjay Bhate
Amber Boys
Niklas Darin
Nicola Foulds
Nicholas Gutowski
Alison Hills
Henry Houlden
Jane A Hurst
Zvi Israel
Margaret Kaminska
Patricia Limousin
Daniel Lumsden
Shane McKee
Shibalik Misra
Shekeeb S Mohammed
Vasiliki Nakou
Joost Nicolai
Magnus Nilsson
Hardev Pall
Kathryn J Peall
Gregory B Peters
Prab Prabhakar
Miriam S Reuter
Patrick Rump
Reeval Segel
Margje Sinnema
Martin Smith
Peter Turnpenny
Susan M White
Dagmar Wieczorek
Sarah Wiethoff
Brian T Wilson
Gidon Winter
Christopher Wragg
Simon Pope
Simon J H Heales
Deborah Morrogh
Alan Pittman
Lucinda J Carr
Belen Perez-Dueñas
Jean-Pierre Lin
Andre Reis
William A Gahl
Camilo Toro
Kailash P Bhatia
Nicholas W Wood
Erik-Jan Kamsteeg
Wui K Chong
Paul Gissen
Maya Topf
Russell C Dale
Jonathan R Chubb
F Lucy Raymond
Manju A Kurian
Publicerad i Nature genetics
Volym 49
Sidor 223–237
ISSN 1546-1718
Publiceringsår 2017
Publicerad vid Institutionen för kliniska vetenskaper, Avdelningen för pediatrik
Sidor 223–237
Språk en
Länkar dx.doi.org/10.1038/ng.3740
www.ncbi.nlm.nih.gov/entrez/query.f...
Ämneskategorier Klinisk medicin

Sammanfattning

Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings. Over time, the majority of affected individuals developed prominent cervical, cranial and laryngeal dystonia. Marked clinical benefit, including the restoration of independent ambulation in some cases, was observed following deep brain stimulation (DBS). These findings highlight a clinically recognizable and potentially treatable form of genetic dystonia, demonstrating the crucial role of KMT2B in the physiological control of voluntary movement.

Sidansvarig: Webbredaktion|Sidan uppdaterades: 2012-09-11
Dela:

På Göteborgs universitet använder vi kakor (cookies) för att webbplatsen ska fungera på ett bra sätt för dig. Genom att surfa vidare godkänner du att vi använder kakor.  Vad är kakor?